ID   SHCDNi006-A
AC   CVCL_B5RS
SY   SHCDN006
DR   BioSamples; SAMEA14207087
DR   hPSCreg; SHCDNi006-A
DR   Wikidata; Q112041713
RX   PubMed=35537242;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 18865; KCNT1; Simple; p.Ala934Thr (c.2800G>A); ClinVar=VCV000039594; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35537242).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188141; Developmental and epileptic encephalopathy 14
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35537242; DOI=10.1016/j.scr.2022.102798;
RA   Luo X.-N., Wang Y.-L., Yuan F., Lin L.-L., Wang A.-Q., Wang C., Guo M.,
RA   Wang S.-M., Wang C.-M., Xu Q.-M., Yin R.-R., Cheng H.-Y., Zhang Y.-F.,
RA   Liu Z.-P., Xu W.-H., Yan J.-B., Zeng F.-Y., Chen Y.-C.;
RT   "Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the
RT   peripheral blood mononuclear cells of a five-month-old Chinese girl
RT   with the heterozygous missense mutation (c.2800 G>A) in the KCNT1
RT   gene.";
RL   Stem Cell Res. 62:102798-102798(2022).
//